SALSA MLPA P214 COL2A1 probemix - 100 reactions

SALSA MLPA P214 COL2A1 probemix - 100 reactions

application: Skeletal disorders, Achondrogenesis, Chondrodysplasia, Early onset familial Osteoarthritis, SED congenital, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome, Spondyloepimetaphyseal
region: COL2A1 12q13.11-q13.2 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P214-100R

Nejnovější informace o produktu naleznete exklusivně na stránkách výrobce MRC-Holland www.mlpa.com (nové okno)

Detailní popis SALSA MLPA P214 COL2A1 probemix - 100 reactions

P214-025R SALSA MLPA P214 COL2A1 probemix – 100 rxn

description
Mutations in the COL2A1 gene lead to a number of different heritable skeletal disorders, including achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenital, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I and spondyloepimetaphyseal dysplasia Strudwick type.

The COL2A1 gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found primarily in cartilage and the vitreous humour of the eye. It comprises 54 exons and spans about 31.5 kb of genomic DNA on chromosome 12q13.11-q13.2, 48 Mb from the p-telomere.

The P214-B2 COL2A1 probemix contains 28 COL2A1 specific probes, covering 26 different exons of the COL2A1 gene. In view of the short distance between most exons, no probes have been made for the remaining exons. In addition, 12 reference probes are included in this probemix, detecting different autosomal chromosomal locations.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in COL2A1 in a DNA sample. Heterozygous deletions of recognition sequences should give a 35-50% reduced relative peak height of the amplification product of that probe. Note that a mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak height, even when not located exactly on the ligation site! In addition, some probe signals are more sensitive to sample purity and small changes in experimental conditions. Therefore, deletions and duplications detected by MLPA should always be confirmed by other methods. Not all deletions and duplications detected by MLPA will be pathogenic; users should always verify the latest scientific literature when interpreting their findings. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Finally, note that most defects in these genes are expected to be small (point) mutations, which will not be detected by this SALSA® MLPA® test. 

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